Pubmed du 12/03/19

mardi 12 mars 2019

1. Charman T. Editorial : Trials and Tribulations in Early Autism Intervention Research. J Am Acad Child Adolesc Psychiatry. 2019.

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2. Gardiner E, Masse LC, Iarocci G. A psychometric study of the Family Resilience Assessment Scale among families of children with autism spectrum disorder. Health and quality of life outcomes. 2019 ; 17(1) : 45.

BACKGROUND : The family system represents a critical context within which children develop. Although raising a child with a disability may represent a challenge to this dynamic system, research demonstrates that families have the capacity to demonstrate both maladaptation and resilience in the face of related stressors. In the current study, we examined the psychometric properties of the Family Resilience Assessment Scale (FRAS) among families of children with autism spectrum disorder (ASD). This tool is the only measure of family resilience that seeks to identify within-family protective factors, including the extent to which they rely on adaptive belief systems, organizational patterns, and communication processes. Identifying protective processes utilized by those who show resilience is critical within both clinical practice and research, as it aligns with a strength-based perspective that builds on what families are doing well. METHODS : Participants included 174 caregivers of individuals with ASD (84% mothers). Caregivers completed the FRAS, as well as the Beach Center Family Quality of Life Scale. The 54-item FRAS was submitted to an exploratory factor analysis, using the iterated principal factor method with a promax rotation. RESULTS : Fifty-one items across 3 factors (Family Communication and Problem Solving, Utilizing Social and Economic Resources, Family Spirituality) were retained, explaining 52% of the total variance. The final scale demonstrated convergent validity with the Family Quality of Life assessment tool. CONCLUSIONS : It is our hope that identifying the optimal scale structure will encourage other researchers to utilize this measure with families of children with ASD, thus continuing to advance the study of family resilience within this unique context.

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3. Hnoonual A, Graidist P, Kritsaneepaiboon S, Limprasert P. Novel Compound Heterozygous Mutations in the TRAPPC9 Gene in Two Siblings With Autism and Intellectual Disability. Front Genet. 2019 ; 10 : 61.

Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder with many contributing risk genes and loci. To date, several intellectual disability (ID) susceptibility genes have frequently been identified in ASD. Here, whole exome sequencing was carried out on a proband with ASD and identified compound heterozygous mutations of the TRAPPC9, which plays a role in the neuronal NF-kappaB signaling pathway. These mutations consisted of a novel frameshift mutation (c.2415_2416insC, p.His806Profs( *)9) and a rare splice site mutation (c.3349+1G>A) that were segregated from an unaffected father and unaffected mother, respectively. These two heterozygous mutations were also identified in the patient’s older brother with ID. Quantitative RT-PCR revealed a significant reduction of TRAPPC9 transcript in two siblings. This study first describes compound heterozygous mutations of the TRAPPC9 gene in two siblings with ASD and ID, which is notable as only homozygous mutations or compound heterozygous for copy number variations and rare variant in this gene have been reported to date and associated with autosomal recessive intellectual disability. The two siblings carrying compound heterozygous TRAPPC9 mutations presented with ID, developmental delay, microcephaly and brain abnormalities similarly to the clinical features found in almost cases with homozygous TRAPPC9 mutation in previous studies. Together this study provides evidence that clinical manifestations of TRAPPC9 mutations as seen in our patients with ID and autism may be broader than previous case reports have indicated.

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4. Hu X, Lee GT, Tsai YT, Yang Y, Cai S. Comparing Computer-Assisted and Teacher-Implemented Visual Matching Instruction for Children with ASD and/or Other DD. J Autism Dev Disord. 2019.

This paper compared the effectiveness and efficiency of using computer-assisted instruction (CAI) and teacher-implemented instruction (TII) to teach visual matching skills to students with autism spectrum disorder and/or other developmental disabilities. Four school-aged students participated in this study with an alternating treatment design. The CAI incorporated discrete trial instruction with the gesture-tracking application, while the TII involved traditional one-to-one instruction using flashcards. The results indicated that all students acquired the target matching skills with generalization to similar untaught skills and maintained acquired skills at a high level for up to 5 weeks under both CAI and TII. Both CAI and TII were effective. However, CAI was more efficient than TII in regards to the prompts provided and the duration of instructional sessions. CAI also resulted in more student engagement in independent learning.

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5. Khayatzadeh-Mahani A, Wittevrongel K, Nicholas DB, Zwicker JD. Prioritizing barriers and solutions to improve employment for persons with developmental disabilities. Disabil Rehabil. 2019 : 1-11.

PURPOSE : Persons with a developmental disability have the lowest rate of labour force participation relative to other disabilities. The widening gap between the labour force participation of persons with versus without disability has been an enduring concern for many governments across the globe, which has led to policy initiatives such as labour market activation programs, welfare reforms, and equality laws. Despite these policies, persistently poor labour force participation rates for persons with developmental disabilities suggest that this population experiences pervasive barriers to participating in the labour force. MATERIALS AND METHODS : In this study, a two-phase qualitative research design was used to systematically identify, explore and prioritize barriers to employment for persons with developmental disabilities, potential policy solutions and criteria for evaluating future policy initiatives. Incorporating diverse stakeholder perspectives, a Nominal Group Technique and a modified Delphi technique were used to collect and analyze data. RESULTS : Findings indicate that barriers to employment for persons with developmental disabilities are multi-factorial and policy solutions to address these barriers require stakeholder engagement and collaboration from multiple sectors. CONCLUSIONS : Individual, environmental and societal factors all impact employment outcomes for persons with developmental disabilities. Policy and decision makers need to address barriers to employment for persons with developmental disabilities more holistically by designing policies considering employers and the workplace, persons with developmental disabilities and the broader society. Findings call for cross-sectoral collaboration using a Whole of Government approach. Implications for Rehabilitation Persons with a developmental disability face lower levels of labour force participation than any other disability group. Individual, environmental and societal factors all impact employment outcomes for persons with developmental disabilities. Decision and policy makers need to address barriers to employment for persons with developmental disabilities holistically through policies guiding employers and broader societal behaviour in addition to those aimed at the individuals (such as skill development or training). Due to multi-factorial nature of barriers to employment for persons with developmental disabilities, policy solutions are wide-ranging and fall under the responsibility of multiple sectors for implementation. This calls for cross-sectoral collaboration using a "Whole of Government" approach, with shared goals and integrated responses.

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6. Krol ME, Ferenc K. Silent shapes and shapeless sounds : the robustness of the diminished crossmodal correspondences effect in autism spectrum conditions. Psychological research. 2019.

We performed a registered replication of the Oberman and Ramachandran (Soc Neurosci 3(3-4):348-355, 2008) study on the ’kiki/bouba’ effect in autism spectrum conditions (ASC). The aim of the study was to test the robustness of the diminished crossmodal correspondences effect in autism, but also to verify whether this effect is not an artifact of differences in intelligence. We tested a Polish-speaking sample of 21 participants with ADOS-confirmed autism spectrum conditions (mean age 15.90) and 21 age- (mean age 15.86), sex- and IQ-matched neurotypical control participants. Procedure closely followed the replicated study. Participants’ task was to match five pairs of unfamiliar words and shapes. Matching words and shapes had similar supramodal characteristics that allowed the match. We report partial replication of the diminished ’kiki/bouba’ effect in individuals with ASC compared to the neurotypical control group. However, we found that nonverbal intelligence also significantly contributed to task performance, but only in participants with autism, suggesting a compensatory role of intelligence. Finally, the effect of autism severity (measured by ADOS classification) was significant-crossmodal correspondences were weaker in individuals with autism, compared to those with autism spectrum diagnosis.

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7. Lee K, Schertz HH. Brief Report : Analysis of the Relationship Between Turn Taking and Joint Attention for Toddlers with Autism. J Autism Dev Disord. 2019.

The relationship between turn taking (i.e., back-and-forth preverbal communicative exchanges) and joint attention has not been studied in interactions between children with autism and caregivers. In joint attention, a form of preverbal social communication, young children socially share attention with a partner about objects, a competency that is difficult for toddlers with autism. Video data of interactions between caregivers and 61 toddlers with autism who received joint attention-focused intervention were analyzed to determine associations between turn taking and joint attention. Results indicate a positive relationship between the two forms of social communication. Further study is needed to determine the extent to which turn taking may play a foundational role in supporting joint attention development for toddlers with autism.

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8. Lee M, Nayar K, Maltman N, Hamburger D, Martin GE, Gordon PC, Losh M. Understanding Social Communication Differences in Autism Spectrum Disorder and First-Degree Relatives : A Study of Looking and Speaking. J Autism Dev Disord. 2019.

This study examined narrative ability in ASD and parents across two contexts differing in structure and emotional content, and explored gaze patterns that may underlie narrative differences by presenting narrative tasks on an eye tracker. Participants included 37 individuals with ASD and 38 controls, 151 parents of individuals with ASD and 63 parent controls. The ASD and ASD parent groups demonstrated lower narrative quality than controls in the less structured narrative task only. Subtler, context-dependent differences emerged in gaze and showed some associations with narrative quality. Results indicate a narrative ability profile that may reflect genetic liability to ASD, and subtle links between visual attention and complex language skills that may be influenced by ASD genetic risk.

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9. Merikanto I, Kuula L, Makkonen T, Salmela L, Raikkonen K, Pesonen AK. Autistic Traits Are Associated With Decreased Activity of Fast Sleep Spindles During Adolescence. Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine. 2019.

STUDY OBJECTIVES : Autistic traits present a continuum from mild symptoms to severe disorder and have been associated with a high prevalence of sleep problems. Sleep spindles have a key function in sleep maintenance and in brain plasticity. Previous studies have found decreased spindle activity in clinical autism. Here we examine the associations between the entire range of autistic traits and sleep spindle activity in a nonclinical community cohort of adolescents. METHODS : Our cohort is based on 172 adolescents born in 1998 (58.7% girls, mean age = 16.9 years, standard deviation = 0.1), who filled in the adult autism-spectrum quotient (AQ), consisting of total score, and social interaction and attention to details subscales. Participants underwent an ambulatory overnight sleep electroencephalography. Sleep spindles (amplitude, duration, density, and intensity) were automatically detected from stage N2 sleep, and divided to slow and fast spindles. RESULTS : Higher AQ total sum and social interaction sum associated with lower fast spindle amplitude and intensity (P< .04). No associations were observed for attention to details. CONCLUSIONS : Our findings indicate that a higher level of autistic traits in the nonclinical range among generally healthy adolescents associate with similar alterations in sleep spindle activity as observed in many neuropsychiatric conditions, indicating lower sleep-related brain plasticity. This indicates that sleep microstructures form a continuum that follows self-reported symptoms of autism.

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10. Reed P, Giles A, White S, Osborne LA. Actual and perceived speedy diagnoses are associated with mothers’ unresolved reactions to a diagnosis of autism spectrum disorder for a child. Autism. 2019 : 1362361319833676.

Reaction to a child’s diagnosis can strongly affect the parent, but little is known about the aspects of the diagnostic process associated with such reactions. The pre-diagnostic levels of anxiety, depression, and parenting stress of 67 volunteer mothers of children subsequently diagnosed with autism spectrum disorder were assessed, along with the children’s functioning. The speed and number of professionals involved in the diagnosis were recorded, and mothers completed a post-diagnosis assessment of their perceptions of the process. Longer actual and perceived diagnosis speeds predicted resolved reactions to diagnosis. Mothers’ psychological states pre-diagnosis did not predict reactions to diagnosis. Providing a measured diagnostic process, and strong relationship with mothers, rather than aiming for speed alone, may well be more productive for the parent and child.

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11. Schoen M, Asoglu H, Bauer HF, Muller HP, Abaei A, Sauer AK, Zhang R, Song TJ, Bockmann J, Kassubek J, Rasche V, Grabrucker AM, Boeckers TM. Shank3 Transgenic and Prenatal Zinc-Deficient Autism Mouse Models Show Convergent and Individual Alterations of Brain Structures in MRI. Front Neural Circuits. 2019 ; 13 : 6.

Research efforts over the past decades have unraveled both genetic and environmental factors, which contribute to the development of autism spectrum disorders (ASD). It is, to date, largely unknown how different underlying causes result in a common phenotype. However, the individual course of development and the different comorbidities might reflect the heterogeneous genetic and non-genetic contributions. Therefore, it is reasonable to identify commonalities and differences in models of these disorders at the different hierarchical levels of brain function, including genetics/environment, cellular/synaptic functions, brain regions, connectivity, and behavior. To that end, we investigated Shank3 transgenic mouse lines and compared them with a prenatal zinc-deficient (PZD) mouse model of ASD at the level of brain structural alterations in an 11,7 T small animal magnetic resonance imaging (MRI). Animals were measured at 4 and 9 weeks of age. We identified a decreased total brain volume (TBV) and hippocampal size of Shank3 (-/-) mice but a convergent increase of basal ganglia (striatum and globus pallidus) in most mouse lines. Moreover, Shank3 transgenic mice had smaller thalami, whereas PZD mice had this region enlarged. Intriguingly, Shank3 heterozygous knockout mice mostly showed minor abnormalities to full knockouts, which might reflect the importance of proper Shank3 dosage in neuronal cells. Most reported volume changes seemed to be more pronounced at younger age. Our results indicate both convergent and divergent brain region abnormalities in genetic and non-genetic models of ASD. These alterations of brain structures might be mirrored in the reported behavior of both models, which have not been assessed in this study.

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12. Shulman L, D’Agostino E, Lee S, Valicenti-McDermott M, Seijo R, Tulloch E, Meringolo D, Tarshis N. When an Early Diagnosis of Autism Spectrum Disorder Resolves, What Remains ?. Journal of child neurology. 2019 : 883073819834428.

A chart review was performed of 38 children diagnosed with autism spectrum disorder (ASD) by 3 years of age at an inner-city developmental program who subsequently experienced resolution of ASD symptomatology and no longer met diagnostic criteria for ASD at follow-up an average of 4 years later. Demographic, developmental/cognitive data, Childhood Autism Rating Scale, and Autism Diagnostic Observation Schedule data as available were reviewed from the initial diagnostic evaluation and at the time of follow-up. Services received by the children between the time of diagnosis and follow-up, educational setting at the time of follow-up, and emotional/behavioral and learning diagnoses made by the multidisciplinary team at follow-up were reviewed. The findings indicate that residual emotional/behavioral and learning problems were present at follow-up in the vast majority of children in this group and that the majority continued to require educational support.

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13. Zhang J, Wang G, He WW, Losh M, Berry-Kravis E, Funk WE. Expression and Characterization of Human Fragile X Mental Retardation Protein Isoforms and Interacting Proteins in Human Cells. Proteomics insights. 2019 ; 10 : 1178641818825268.

Fragile X mental retardation protein is an mRNA-binding protein associated with phenotypic manifestations of fragile X syndrome, an X-linked disorder caused by mutation in the FMR1 gene that is the most common inherited cause of intellectual disability. Despite the well-studied genetic mechanism of the disease, the proteoforms of fragile X mental retardation protein have not been thoroughly characterized. Here, we report the expression and mass spectrometric characterization of human fragile X mental retardation protein. FMR1 cDNA clone was transfected into human HEK293 cells to express the full-length human fragile X mental retardation protein. Purified fragile X mental retardation protein was subjected to trypsin digestion and characterized by mass spectrometry. Results show 80.5% protein sequence coverage of fragile X mental retardation protein (Q06787, FMR1_HUMAN) including both the N- and C-terminal peptides, indicating successful expression of the full-length protein. Identified post-translational modifications include N-terminal acetylation, phosphorylation (Ser600), and methylation (Arg290, 471, and 474). In addition to the full-length fragile X mental retardation protein isoform (isoform 6), two endogenous fragile X mental retardation protein alternative splicing isoforms (isoforms 4 and 7), as well as fragile X mental retardation protein interacting proteins, were also identified in the co-purified samples, suggesting the interaction network of the human fragile X mental retardation protein. Quantification was performed at the peptide level, and this information provides important reference for the future development of a targeted assay for quantifying fragile X mental retardation protein in clinical samples. Collectively, this study provides the first comprehensive report of human fragile X mental retardation protein proteoforms and may help advance the mechanistic understanding of fragile X syndrome and related phenotypes associated with the FMR1 mutation.

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14. Zlomke KR, Jeter K. Comparative Effectiveness of Parent-Child Interaction Therapy for Children with and Without Autism Spectrum Disorder. J Autism Dev Disord. 2019.

Youth with autism spectrum disorder (ASD) often display disruptive behavior and noncompliance. Disruptive behavior in youth with ASD may limit their participation in educational and therapeutic activities and impact family functioning. Several evidence-based interventions are available for typically developing children, such as Parent-Child Interaction Therapy (PCIT). The current study examined the comparative effectiveness of PCIT for youth with ASD and without ASD. Results indicate that PCIT significantly improves parent-reported disruptive behavior in children with ASD at levels comparable to children without ASD. Additionally, improvements in ASD-related symptoms were noted for youth with ASD. These findings support the use of PCIT for children with ASD and provide clinicians with an evidence-based tool to address disruptive behavior in a wide spectrum of presenting children.

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